[Relevance of the gene variant PTPN22 620W for rheumatology].
PTPN22 620W is regarded as the second most important risk factor for type 1 diabetes and rheumatoid arthritis. Here we describe aspects of the molecular biology of the enzyme and its function, the geographical distribution of the 620W variant, as well as its importance in less frequent rheumatic diseases.
Melchers
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Klinische Forschergruppe für Rheumatologie, Abteilung für Rheumatologie und Klinische Immunologie, Universitätsklinikum Freiburg, Breisacher Str. 66 (ZKF), 79106, Freiburg. inga.melchers@uniklinik-freiburg.de
Ahnert
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D001172:Arthritis, Rheumatoid / Q000453:epidemiology* / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics*; D005858:Germany / Q000453:epidemiology; D006801:Humans; D038622:Internationality; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D015995:Prevalence; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22 / Q000235:genetics*; D018570:Risk Assessment / Q000379:methods*; D012307:Risk Factors
C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22